The disease I have had the biggest contribution in helping patients with is Gaucher’s disease.
Gaucher’s disease is a rare genetic disorder with less than 10,000 confirmed patients worldwide. To put this into context, it is estimated there are greater than 300 million diabetics worldwide.
If you have Gaucher’s disease it means you don’t produce a certain enzyme that your body needs to break down fatty materials. these fatty substances then build up on patients organs and in the bone marrow. These symptoms will eventually prove fatal if left untreated.
I have been working on development of a new medicine for treatment of Gauchers’s disease since 2009. My particular role was to investigate how we manufacture the capsule, so that we could establish the correct process parameters, so that it would still dissolve and remain stable.
I have mostly worked on reactions that could be used to make lots of different medical molecules. When I was at Pfizer, I worked on a reaction to make part of a molecule for a cancer treatment and one for the treatment of a mental illness. They are both really important, especially in the developed world because cancer is a big danger (as you probably already understand). Working on the drug for mental illness was really important for me because both my parents are nurses who work in mental health, and I knew the positive effects the medication would have.
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